A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210578



Internal ID22358430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160162413..160181874hg38UCSC Ensembl
Outerchr6:160583445..160602906hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381904
hg191904
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278974, nssv14278973
SamplesNA19239, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210578
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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